Mutagenetix > Incidental Mutations

Incidental Mutation 'R0144:Olfr486'

22508

Institutional Source

Beutler Lab

Gene Symbol

Olfr486

Ensembl Gene

ENSMUSG00000096068

Gene Name

olfactory receptor 486

Synonyms

MOR204-19, GA_x6K02T2PBJ9-10501920-10500976

MMRRC Submission

038429-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

108171798-108172742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108171971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 258 (I258V)

Ref Sequence

ENSEMBL: ENSMUSP00000071918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072035]

AlphaFold

Q8VFD0

Predicted Effect

probably benign
Transcript: ENSMUST00000072035
AA Change: I258V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071918
Gene: ENSMUSG00000096068
AA Change: I258V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	6.8e-51	PFAM
Pfam:7tm_1	44	293	6.6e-24	PFAM

Meta Mutation Damage Score

0.1009

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,605,965		probably null	Het
Acp6	T	A	3: 97,165,829		probably benign	Het
AI661453	A	T	17: 47,469,299		probably benign	Het
Aox1	A	G	1: 58,070,074	I674V	probably benign	Het
Armc2	A	T	10: 41,947,887		probably benign	Het
Atp8b1	G	C	18: 64,571,374		probably benign	Het
Baz2b	A	T	2: 59,907,495	N1823K	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Brca1	A	T	11: 101,526,121	S396T	probably damaging	Het
Btnl6	G	T	17: 34,514,020	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,827,351	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,276,203	I738T	probably damaging	Het
Ccdc58	A	T	16: 36,085,114	N92I	possibly damaging	Het
Ceacam15	G	T	7: 16,673,191	H134N	probably benign	Het
Cep170	T	C	1: 176,792,595	I46V	probably benign	Het
Cfap57	T	C	4: 118,584,705	D722G	probably damaging	Het
Col11a1	A	T	3: 114,113,594	D628V	unknown	Het
Csmd1	A	T	8: 16,391,824	V342E	probably benign	Het
Dennd1a	A	G	2: 38,126,640	V64A	probably damaging	Het
Dlec1	G	T	9: 119,142,866	G1345V	probably benign	Het
Dnah1	G	A	14: 31,267,874		probably benign	Het
Dock5	C	T	14: 67,786,286	G1142D	probably benign	Het
Etv2	C	A	7: 30,634,883	A142S	probably benign	Het
Fam110c	C	A	12: 31,074,501	T154K	unknown	Het
Fbxo17	C	G	7: 28,735,340	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,295,220	W681R	probably damaging	Het
Fig4	A	G	10: 41,258,049	Y413H	probably damaging	Het
Gab1	A	G	8: 80,785,201		probably benign	Het
Gabarapl1	T	C	6: 129,533,448	M1T	probably null	Het
Gm4763	A	G	7: 24,723,590	V101A	possibly damaging	Het
H2-M10.6	G	A	17: 36,812,241	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,962,013	D2432G	probably damaging	Het
Il13	T	C	11: 53,633,176	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,751,920	L479P	probably damaging	Het
Itpr2	T	A	6: 146,327,155	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,706,156	G427S	probably benign	Het
Kcnb1	T	G	2: 167,104,547	N794H	probably damaging	Het
Klhl8	A	T	5: 103,867,938	S361R	probably benign	Het
Krt87	T	C	15: 101,438,661	Y37C	probably benign	Het
Lbp	A	T	2: 158,319,710	S231C	probably damaging	Het
Lpin2	A	G	17: 71,225,076	E142G	probably damaging	Het
Lrch4	G	A	5: 137,638,543		probably null	Het
Manea	A	G	4: 26,340,719	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,481,015	T618A	probably benign	Het
Me3	A	G	7: 89,739,872	D128G	probably damaging	Het
Mug2	A	G	6: 122,071,011		probably benign	Het
Myo9b	A	T	8: 71,346,043	Q901L	probably damaging	Het
Nalcn	C	T	14: 123,409,839		probably benign	Het
Nalcn	T	C	14: 123,371,536	R640G	probably damaging	Het
Ncor1	T	C	11: 62,392,595	N422S	probably damaging	Het
Nf1	T	A	11: 79,547,127	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,348,392	A358T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr593	A	T	7: 103,212,540	I216F	probably damaging	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Pld5	T	C	1: 175,970,541	N431D	probably benign	Het
Prss28	G	A	17: 25,309,450	V16M	probably damaging	Het
Psmd2	T	A	16: 20,662,225		probably null	Het
Ptpn21	A	T	12: 98,688,609	S700T	probably benign	Het
Rasa2	A	T	9: 96,592,019	V152D	probably damaging	Het
Reln	G	T	5: 21,948,449	R2286S	probably damaging	Het
Rflnb	G	T	11: 76,024,963	P102Q	probably damaging	Het
Rin2	G	A	2: 145,876,639	V680I	probably damaging	Het
Rnf213	A	T	11: 119,479,600	K4742*	probably null	Het
Rpp40	A	T	13: 35,901,369	S143T	probably benign	Het
Rps12	A	G	10: 23,786,791	I51T	probably benign	Het
Rsf1	T	A	7: 97,636,407	W109R	probably damaging	Het
Sipa1l2	C	T	8: 125,449,876		probably null	Het
Tspan5	G	T	3: 138,898,348	V165L	probably damaging	Het
Uts2r	T	A	11: 121,161,465	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,789,016	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,579		probably benign	Het
Zmiz1	A	G	14: 25,655,247	K766R	probably damaging	Het

Other mutations in Olfr486

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Olfr486	UTSW	7	108171927	missense	probably benign	0.09
R0165:Olfr486	UTSW	7	108172675	missense	probably benign	0.03
R0739:Olfr486	UTSW	7	108172010	missense	probably benign	0.00
R1027:Olfr486	UTSW	7	108172141	missense	probably damaging	0.98
R1781:Olfr486	UTSW	7	108171883	missense	probably benign	0.06
R3729:Olfr486	UTSW	7	108172309	missense	probably benign	0.13
R4505:Olfr486	UTSW	7	108171968	missense	probably benign	0.00
R5223:Olfr486	UTSW	7	108172708	missense	probably benign	0.20
R7089:Olfr486	UTSW	7	108172494	missense	probably benign	0.01
R7499:Olfr486	UTSW	7	108171800	makesense	probably null
R7894:Olfr486	UTSW	7	108172184	missense	probably benign
R7995:Olfr486	UTSW	7	108172000	missense	probably damaging	1.00
R8807:Olfr486	UTSW	7	108172645	missense	possibly damaging	0.93
R9050:Olfr486	UTSW	7	108171880	missense	probably damaging	1.00
R9244:Olfr486	UTSW	7	108172645	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCAAAGGAGAAATACCTTGGCTT -3'
(R):5'- AGCAATCTGCAACCCACTGCTTTA -3'

Sequencing Primer
(F):5'- GGAGAAATACCTTGGCTTATAACC -3'
(R):5'- ATGTCCTCACAAGTGTGTATCCAG -3'

Posted On

2013-04-16